Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440016 | SCV000514261 | benign | not specified | 2015-07-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000440016 | SCV000614768 | uncertain significance | not specified | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000371267 | SCV000767798 | likely benign | Epilepsy, progressive myoclonic, 1B | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328823 | SCV002627959 | likely benign | Inborn genetic diseases | 2018-05-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |